Canonical Allele Identifier: CA624867880
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1254966356
gnomAD v2: 17-7915732-CA-C
gnomAD v4: 17-8012414-CA-C
MyVariant Identifiers: chr17:g.7915733del (hg19) chr17:g.8012415del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012415del , CM000679.2:g.8012415del GRCh38
NC_000017.10:g.7915733del , CM000679.1:g.7915733del GRCh37
NC_000017.9:g.7856458del NCBI36
NG_009092.1:g.14746del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1957-35del MANE Select ENSP00000254854.4:n.1957-35del
ENST00000254854.4:c.1957-35del ENSP00000254854.4:n.1957-35del
NM_000180.3:c.1957-35del NP_000171.1:n.1957-35del
XM_011523816.1:c.1957-35del XP_011522118.1:n.1957-35del
NM_000180.4:c.1957-35del MANE Select NP_000171.1:n.1957-35del
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